This living one day at a time stuff is for the birds.

It has been a nice little reprieve the last couple days not seeing any of the eye rolling incidents he’s been experiencing. But I’m not tempting you, Fate. No need to show me who is boss. I know not to celebrate good things. He could have one tomorrow or in 5 minutes, so don’t think I’m getting all cocky and thankful. I know that’s not allowed. Until the neurologist’s office called this morning to verify the  results of the EEG–no hips arrythmia and the only odd activity present is irritation from the surgery (what we already knew)–Chris and I hadn’t even acknowledged out loud the fact that we hadn’t seen any for two days. They remain a mystery until we can catch them on EEG. But the reality is that the EEG also shows a tendency to epilepsy because of the other tubers present. No seizures, just little outputs of activity as if to say, “Screw you. Did you think you’d wake up and TSC would just go away?” That’s TSC. It’s always there. You just don’t know what it will do. I totally understand those parents that enact vigilante justice when someone hurts their kid. If TSC could take human form, I’d stab it to death. Slowly. Only time will tell if epilepsy will be an ongoing battle for him.

The physical therapist came yesterday. Once again, she said he was looking really good. Very interactive, engaged, energetic and much more tolerant of being on his tummy. He’s adding more noises to his repetoire and playing with toys, all in the appropriate window of time…although he likes to push those windows to make Mommy nervous. She is thrilled, as am I, that we are weaning him off the phenobarbital. It’s pretty much the go-to seizure med for babies, but it’s a major suppressant of all activity, and longterm, is connected to cognitive issues. Connor often refuses to look his therapist in the face, even though he will make eye contact and giggle with us, because she is the mean lady that makes him work out for an hour straight. Mommy can be broken in less than hour easy. It’s kind of humorous to watch him swing his head back and forth as she tries to get him to engage with her. He’s not having it. She goes to the right, he goes to the left and vice versa. But she says this is good because he is distinguishing between people he likes and people he doesn’t. We’re really pushing him more to roll over. He can. He has. But he’d rather do this:

Where he started…
A few minutes go by…
Making a break for it!

A breakdown of his meds history:

When he came home we had to give meds 5x a day. It was hell. He was on:

Phenobarbital 2x per day 8am, 8 pm

keppra 2x per day — 8 am, 8 pm

dilantin 3x per day– 6am, 2 pm, 10 pm

I want you to seriously think about that schedule. Seriously imagine having to stop at all those times of day no matter where you are or if he’s sleepy to force him to take some crappy tasting medicine.

Then we weaned him off the dilantin.

He was only on phenobarb and keppra 2x per day for some time, but after surgery we never upped the dose again because we weren’t seeing anything.

Then the infantile spasms started, so we added Sabril (vigabatrin) and clonazepam. And now we are in the process of weaning off the phenobarb. So once we finish weaning, he will be on:

Keppra

clonazepam

Sabril

All two times a day thank God because I don’t think I can mentally handle more than that.

Advertisements

We didn’t crush this fundraiser walk so you could be a vegan!

We’ve recently graduated from simple fruits and vegetables to meats like ham and turkey. Today we tried mac & cheese with veggies. Connor’s enthusiasm has been less than expected for all of these considering how much Korean BBQ and macaroni he consumed as a fetus. Bad grades, rebellious clothing, refusal to do chores, heck, even automobile theft may be par for the parenting course, but if he thinks he’s gonna be some sort of vegan/vegetarian…Not on my watch, sir. Mommy and Daddy love meat far too much.

And now to go back in time to something that really touched me. Connor was born at the end of March, which was the beginning of our journey to figure out this tuberous sclerosis mystery. Imagine going from never having heard of something to learning that a fundraising walk is held annually at a park barely a couple miles from the house you grew up in. We didn’t even have two months from the time he was born until the Atlanta area walk to organize and raise money, but my friend Kate set up the team registration for me since it didn’t take much to trigger my anxiety at that point. The mere logo for the TS Alliance could trigger a tightening in  my chest and lightheaded feeling that would force me off my feet. We have an adorable little TSC bear clad in a TS Alliance shirt. Connor loves it, but I had to turn the shirt inside out at the time. I didn’t think we had much time to raise any money, so we set the team goal at $1,000. Chris’s sister Donna and brother Carey got in touch with friends who owned a t-shirt company and designed a team shirt. As you’ll see below, they chose a color that guaranteed we wouldn’t be missed. Carey provided them for everyone who walked. I was amazed when we had about 30 friends and family walk for him and the team raised over $6,000. Some of my co-workers that walked even wore their team shirts to school to help raise awareness.

Here are some pics from the walk (and if you’re wondering why you don’t see me much, two words. Baby weight.):

Meeting with the Tuberous Sclerosis Alliance

Last night I attended a meeting led by Kari Luther Rosbeck, President and CEO of the TS Alliance, and Dr. Steve Roberds, Chief Scientific Officer. The Alliance is located in the D.C. area, so being able to hear directly from them about the accomplishments and goals of the organization was comforting for someone who is still pretty new to the TSC world. The difference a few years makes is incredible. So much more is known about this disease now than just a couple decades ago. It’s incredible to think that the two genes that have so far been found to cause it, as well as their function, were only identified in the 90s which lead to a genetic test to confirm the disease (research is being done to see if another gene is involved). This in turn has led to clinical trials of the mTOR inhibitors now used to treat the tumors.

Some recent studies have shown, with animal models, that these inhibitors can prevent the onset of seizures and cognitive deficits in the young, as well as treat seizures and reverse cognitive deficits in adults. I just remind myself how much change has taken place recently, and how much more is being done, when I start freaking about about the fact that we have no idea what kind of course Connor’s TSC will take. And thank you to the couple that spoke last night about how their son is a sophomore in college. It helps keep my anxiety in check.

Given the genetic nature of the disease, and the fact that the majority of the cases are spontaneous mutations, rather than passed down by family, experts feel a “cure” will be a significant challenge. However, a lot can be done in the areas of early identification and treatment. For example, if an infant is born with a diagnosis of TSC, EEGs could be done  before seizures ever start, and should anything appear abnormal, begin treatment before they experience one. Currently, infantile spasms are treated when they start, but if ways are found of identifying children that are more likely to experience these, they can be treated before they ever start. Since TSC can lead to autism and cognitive problems, if the course of how those develop can be studied it can lead to preventative measures as well. Basically, the focus is on changing the progression and manifestation of the disease.

Improvements in technology are improving the chances of early identification. Many children weren’t diagnosed until seizures started and they would have to endure them for extended periods while doctors tried to figure out what was going on (a common feature of TSC is seizures that are hard to control. Connor spent 5 whole weeks in NICU as they tried to get them to a manageable level, and we actually knew the cause). Now ultrasounds can be a tool to identify babies at risk because of the rhabdomyomas that can form in the heart. As I mentioned in an earlier post, Connor was found to have one at my 30-week ultrasound, although tuberous sclerosis was mentioned in such a vague way, that we were more focused on the possibilty of a heart defect. I’ve since read about what a strong marker of TSC those rhabdomyomas actually are. One study I found said that of 19 babies found  to have one on the ultrasound, 15 of them went on to be diagnosed with TSC. Perhaps the doctors should have pushed that possibility a little more. In our case, since the seizures started the day he was born, those two markers immediately led to diagnosis. But I wonder, had his seizures started months later, or had we not seen it, how long it would have taken to figure things out.

One of the biggest points I try to make to people is this. TSC research involves finding out what leads to tumor growth, autism, epilepsy and many other issues that also occur in the general population. It doesn’t just benefit those with TSC, but a far greater number of people. Maybe you don’t know anyone with TSC, or Connor is the only one. But you probably know someone with autism, epilepsy, learning disabilites or cancer. Tuberous sclerosis complex may not be as high profile as a lot of other causes, but it should be.

Is Michael Myers in my house?

We have an eruption. The tooth has made a slight appearance. It’s difficult to catch a glimpse of it though since Connor pretty much always either has his fingers in his mouth or his tongue sticking out. That part of the teething process is charming. Slightly less charming is the “I’m being chased in a darkened parking garage by an axe murderer” shriek he’s adopted over the last few days.  Up until then his new sounds had been grunting and growling, which the pediatrician said is typical of boys. The girls, she said, like to shriek. I’m all for equal opportunity and eliminating gender based stereotypes (except in cases of guys I’ve dated), but at 5 am I don’t want to hear the Halloween soundtrack coming out of his room. His appetite has also decreased significantly, but I’m pretty sure my 7-month-old who is wearing 12-18 month clothing is gonna be alright. Losing a little weight will probably help him with his motor skills anyway, since the physical therapist thinks his rapid weight gain is a factor in his slight motor delays.

I’d post a picture of the tooth, but at this point I’m afraid he’ll chew up my phone.

We have a feeling he might just bypass crawling since that doesn’t come easy to chunky babies and he is pretty strong when you put him in a standing position. Plus, his answer to tummy time is to conk out after a couple minutes because he doesn’t like to work. He’s like his mommy. You want me to do what? Yard work?…mommy crawls behind sweaters hanging in closet and passes out. He might actually just resort to doing the backstroke on land. Lately he’s been scootching himself  several inches up when lying on the changing table and in the crib. So frankly, he probably considers it silly to go to all the effort of turning himself over.

I spent about 3 hours sleeping on the floor with him this morning when his shrieking started up. I’ve done that quite a bit when he gets loud enough. He’s not crying, but proximity to one of us usually quietens him down. So it’s either one of us on the floor, or Chris on the couch and him in the bed with me. Bet the baby book writers would love that. Way to teach him how to get what he wants instead of just putting himself back to sleep. But since he sleeps pretty well most of the time, we don’t care, and they aren’t here to assist me when I stumble into a wall because I can barely open my eyes. I barely consult baby books anymore because the normal every day stuff doesn’t phase me now. So he may not have the perfect nap schedule or all those other details that fill 500 page books. He’s a happy baby.

Besides, he’s gonna provide the sound effects for the trick or treaters.

Just because I wear the same costume over and over doesn’t mean I don’t like Halloween…

Image

Don’t think I don’t know what you’re thinking. Horrible mother! Horrible! Why is she doing that to him? Please. This kid was ticked that his pumpkin costume didn’t come with a machete. His only response to Creepy McPumpkinhead was to try and shove him in his mouth, presumably to keep company with the two teeth that are about to burst out of his gums Alien-style.

Connor also attended his first Halloween party yesterday, which was also the day of his 7-month birthday. It was thrown by my friend Claudia. Claudia is the reason Connor will eventually grow to resent me and think I’m totally lame because she loves to throw theme parties and has the inflatables rental place on speed dial. I’m gonna have to rent Cirque du Soleil for his birthday to compete. And the entire staff at Nickelodeon. Either that or we’ll just pretend he has the same birthday as her daughter Isabella and tell him the party is for him. Since it was a kids’ party, I was unable to wear the French maid costume I bought in, I don’t know, 2004? Fortunately, my mother keeps everything, so I wore my witch outfit from middle school instead. Look, I just prefer decorating my child and house to decorating myself.

Image

With Isabella at the party

ImageImage

With Daddy at the party .                          My cats don’t cooperate, so I live through others…

ImageImage

With “Uncle” Damien (costume got a little hot…)      With Ugly Betty

Image

Mommy found a cool wig for $5.99 the day AFTER the party….

Connor had physical therapy this morning and she continues to be very happy with him. We’ve been focusing on strengthening his core, but now we’re shifting to mobility by working with him in positions that will make sure he gets comfortable transitioning into crawling and standing positions. His independent sitting has improved since she saw him just last week.

And as I type this, I look down to see…

Image

I give up. I can’t keep anything on his feet.

Is this glue on my head again?

At his EEG today

There’s good news and bad news. The bad news is that after another hour long EEG, we still aren’t really sure what the deal is with these eye rolling incidents he’s having once or twice a day. And unlike the last time, when we spent 8 hours in an office with electrodes on his head only to have an episode on the way home, this time he had an episode in the waiting room right before it. At least the EEG showed once again that the hipsarythmia brain pattern that previously presented with his spasms has cleared up thanks to Sabril. The doctor doesn’t seem certain whether these are spasms or not, although he can’t say they aren’t some sort of seizure activity. He was very pleased with how well Connor is doing though because he isn’t presenting like a child having infantile spasms. At any rate, we are weaning him off one of his meds, phenabarbitol, so that we can see if clonazepam is more effective at knocking out whatever these eye rolls are. There was still no seizure activity otherwise (thanks again to our surgeon), which leads me to the other good news: during the EEG today they tried to see if a strobe light would trigger anything. It had no effect on him whatsoever, so Connor’s going clubbing this weekend.

But at least we got to do something fun today, too! Well, I’m not sure he would agree with that.

Infantile spasms–my unanswered prayer

You never know when or if something might spring up with TSC. We came so close after surgery to having some normalcy, but it wasn’t to be just yet. About a month after surgery, on Wednesday August 22, Connor had a follow up EEG. We hadn’t seen any seizures since surgery, and now we would see how he was doing as far as the subclinical seizures that can’t be seen to the naked eye. The neurologist would read the EEG and call us with the results within a week. But on Friday morning, August 24, the moment that had lost me countless hours of sleep and stress happened. We saw his first infantile spasms. I don’t even know how much desperate begging and praying I had done that he wouldn’t develop this complication. Infantile spasms are extremely rare in the general population, but kids with TSC are at a higher risk of developing them. I had watched countless YouTube videos other parents had loaded to help others with identification, so that I would be sure if the moment came. But why so much more concern over this seizure type than what he had before? IS can cause brain damage, prevent children from reaching milestones, and even cause regression. Some people had reported their babies had regressed to a newborn state after developing these, losing any milestones they had achieved.

I had obsessed and obsessed over how things would go when these started. How long would it take to get treatment rolling? How many would he have before treatment started to work? What damage would be done between the moment we first saw them and the moment treatment became effective? One thing I didn’t worry about was whether the drug I knew he would get if this happened, Sabril (vigabatrin). would work. I’d heard amazing things about its effectiveness. I’d even obsessed over whether they would start on a Friday after the neurologist’s office closed further complicating getting treatment started. If these had come out of nowhere, meaning we knew nothing of his TSC, these would warrant going to the ER to get treatment started. But since we already had a plan in place and a neurology team, we were told just to call the office and we’d get the ball rolling. So naturally, they started on a Friday. And the office closes early on Fridays. Did I  mention I had a full blown anxiety attack on top of everything else? Because people were right. They said you’d know the spasms when you saw them. And I did.

Click to see spasms before starting Sabril:

http://youtu.be/VPpuAvNJQ30

It actually worked out well that the office was closed. Instead of going through medical assistants, I was able to directly page the doctor on call. I described what I saw and I could tell my description concerned him. They hadn’t yet reviewed his EEG, so he said he would look at that and call us back shortly. Confirmed. His EEG showed hipsarrhythmia, the scrambled pattern of brainwaves that often (but not always) accompany IS. They called in a prescription for Klonipin (clonazepam) for the weekend to help calm them, and we had the first appointment Monday morning to get him on Sabril. On the bright side, the surgery had been a success. No complex partial seizure activity. We should have been able to celebrate, but I try not to be bitter. Try.

It was a long weekend in which we saw 3-4 clusters a day (his worst day having 8). A cluster is a series of spasms. Monday morning we signed our life away on paperwork due to the fact that a possible side effect of Sabril is damage to or loss of peripheral vision. But as Wendi (the fellow TSC mom who has been there to help us and answer our questions through all this) said, “What good is 20/20 vision if their brain is mush?” I haven’t come across any stories yet about children experiencing this so hopefully he won’t either. Because of the risk, he has to undergo eye exams every three months as a precaution, including an ERG (electroretinography) at Scottish Rite. He has to be sedated and electrodes are used to check his vision. Can nothing be simple? You can’t even get Sabril at a regular pharmacy. It has to be Fedexed to your house.

After about a week and a half we seemed to be in the clear. We went three days with no spasms. Then the eye rolling started. It is now mid October and we are still trying to get a handle on the eye rolling. Presumably, they are milder spasms that are breaking through on the Sabril, but he’s doing well and continues to progress. While the full spasms were going on, he was quieter and it was harder to get a laugh, but he’s back to his giggly self. He underwent an 8-hour EEG to try and determine what was going on. Naturally, he didn’t have a single incident for the entirety of the test. Nope, not until we were in the car on the way home. I was so frustrated I might have driven my car into a tree had Connor not been in the car. But the EEG came back otherwise greatly improved, the hipsarrythmia having cleared up. So this Wednesday it’s back to the neurologist for an hour EEG (yeah right, like we’ll get lucky enough for something to happen in that small window) and an appointment to discuss his progress. I’ve been a little bit crushed that Sabril wasn’t the 100 percent miracle cure it has been for many others. I truly thought it would knock them out completely within a few days, so that we’re still seeing anything has been a bit crushing. That being said, it has immensely improved the situation and allowed him to continue on his developmental path.

What we’re currently seeing:

http://www.youtube.com/watch?v=qttWpEA3UYg&feature=youtu.be